983 resultados para 23-220


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Inventories and vertical distribution of (137)Cs were determined in La Plata region undisturbed soils, Argentina. A mean inventory value of 891 ± 220 Bq/m(2) was established, which is compatible with the values expected from atmospheric weapon tests fallout. The study was complemented with pH, organic carbon fraction, texture and mineralogical soil analyses. Putting together Southern Hemisphere (137)Cs inventory data, it is possible to correlate these data with the mean annual precipitations. The large differences in (137)Cs concentration profiles were attributed to soil properties, especially the clay content and the pH values. A convection-dispersion model with irreversible retention was used to fit the activity concentration profiles. The obtained effective diffusion coefficient and effective convection velocity parameters values were in the range from 0.2 cm(2)/y to 0.4 cm(2)/y and from 0.23 cm/y to 0.43 cm/y, respectively. These data are in agreement with values reported in literature. In general, with the growth of clay content in the soil, there was an increase in the transfer rate from free to bound state. Finally, the highest transfer rate from free to bound state was obtained for soil pH value equal to 8.

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Williams-Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile and craniofacial features. These insights for genotype-phenotype correlations came from the molecular and clinical analysis of patients with atypical deletions and mice models. Here we report a patient showing mild WBS physical phenotype and normal IQ, who carries a shorter 1 Mb atypical deletion. This rearrangement does not include the GTF2IRD1 and GTF2I genes and only partially the BAZ1B gene. Our results are consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes might be involved in the facial dysmorphisms and in the specific motor and cognitive deficits observed in WBS patients.

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Describe la distribución del desove de las especies de anchoveta, sardina, jurel y caballa. Así mismo, indica la cantidad y ubicación de las mismas especies dentro del territorio del litoral peruano.

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Se estudió la dieta del guanay y el piquero peruano a partir de 4.425 bolos residuales y 1.220 regúrgitos respectivamente, en cinco áreas guaneras de la costa, con el objeto de conocer sus variaciones. La anchoveta Engraulis ringens fue la presa predominante, 42,30º;0 en guanay y 76.23º/o en piquero, encontrándose diferencias altamente significativas en el consumo de esta presa entre zonas y entre meses muestreados. Las variaciones latitudinales mostraron tendencias similares a los patrones de distribución conocidos de este recurso: gran disponibilidad en la zona norte-centro, escasez en la zona de San Juan y poca disponibilidad en la zona sur. Estacionalmente la dieta del guanay no presentó ninguna tendencia, sin embargo, los cambios en el consumo de anchoveta en la dieta del piquero mostraron mayor disponibilidad de esta presa en meses de verano respecto a los meses de invierno. Estas fluctuaciones en las dietas muestran que la oferta de alimento en el sistema de afloramiento peruano, fue bastante variable durante el período de estudio y que la disponibilidad de anchoveta presenta grandes variaciones tanto en el espacio como en el tiempo. La continuación de estos estudios permitirá monitorear permanentemente los cambios en la distribución y abundancia de los stocks de peces que forman parte de su alimento.

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Presenta los resultados del crucero de Investigación del calamar gigante, realizado a bordo del BIC SNP-2, del 23 de marzo al 12 de abril de 1999, de Puerto Pizarro al Callao, con el objeto de recopilar información actualizada sobre el estado biológico poblacional del recurso y las condiciones oceanográficas en el área y período de estudio.

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El presente informe tiene por objetivo principal conocer, el estado poblacional y biológico de la concha de abanico y algunos aspectos físicos-químicos del agua de la Bahía Independencia durante setiembre de 1987.

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We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplications are flanked by large, directly oriented segmental duplications of >98% sequence identity, suggesting that nonallelic homologous recombination (NAHR) caused these genomic rearrangements. Nine individuals with deletions and five with duplications have additional copy number changes. Detailed clinical evaluation of 20 patients with deletions revealed variable clinical features, with developmental delay (DD) and/or intellectual disability (ID) as the only features common to a majority of individuals. We suggest that some of the other features present in more than one patient with deletion, including hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis may result from deletion of the CHAT gene, encoding choline acetyltransferase, and the SLC18A3 gene, mapping in the first intron of CHAT and encoding vesicular acetylcholine transporter. The phenotypic diversity and presence of the deletion in apparently normal carrier parents suggest that subjects carrying 10q11.21q11.23 deletions may exhibit variable phenotypic expressivity and incomplete penetrance influenced by additional genetic and nongenetic modifiers.

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We report the characterisation of 27 cardiovascular-related traits in 23 inbred mouse strains. Mice were phenotyped either in response to chronic administration of a single dose of the beta-adrenergic receptor blocker atenolol or under a low and a high dose of the beta-agonist isoproterenol and compared to baseline condition. The robustness of our data is supported by high trait heritabilities (typically H(2)>0.7) and significant correlations of trait values measured in baseline condition with independent multistrain datasets of the Mouse Phenome Database. We then focused on the drug-, dose-, and strain-specific responses to beta-stimulation and beta-blockade of a selection of traits including heart rate, systolic blood pressure, cardiac weight indices, ECG parameters and body weight. Because of the wealth of data accumulated, we applied integrative analyses such as comprehensive bi-clustering to investigate the structure of the response across the different phenotypes, strains and experimental conditions. Information extracted from these analyses is discussed in terms of novelty and biological implications. For example, we observe that traits related to ventricular weight in most strains respond only to the high dose of isoproterenol, while heart rate and atrial weight are already affected by the low dose. Finally, we observe little concordance between strain similarity based on the phenotypes and genotypic relatedness computed from genomic SNP profiles. This indicates that cardiovascular phenotypes are unlikely to segregate according to global phylogeny, but rather be governed by smaller, local differences in the genetic architecture of the various strains.

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Much like the first volume published in 2011, the second volume of this anthology series gathers a selection of analyses which are empirically based on the data of the Swiss panel study TREE (Transitions from Education to Employment). The contributions of this volume carry on the investigation of the critical transitions during youth and young adulthood, drawing on sociological, economic, psychological and pedagogical research questions and thus highlighting the analytic and pluri-disciplinary research potential of the TREE data. One of the topical foci is the long-term influence of social origin on education and labour market pathways, particularly with regard to access to higher education.